Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes.
Karttunen
L
L
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Ukkonen
T
T
Kainulainen
K
K
Syvänen
A C
AC
Peltonen
L
L
D018388:Codon, Terminator / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D000071838:Fibrillin-1; D000071837:Fibrillins; D005347:Fibroblasts; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics* / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D014158:Transcription, Genetic; D054392:Adipokines
D018388:Codon, Terminator; D004247:DNA; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines